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The Emerging Role of Gβ Subunits in Human Genetic Diseases

1
Division of Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, Viale Cappuccini, 71013 San Giovanni Rotondo (FG), Italy
2
Center for Integrative Genomics, University of Lausanne, CH-1015 Lausanne, Switzerland
*
Author to whom correspondence should be addressed.
These authors contributed equally to this work.
Cells 2019, 8(12), 1567; https://doi.org/10.3390/cells8121567
Received: 23 October 2019 / Revised: 23 November 2019 / Accepted: 29 November 2019 / Published: 4 December 2019
Environmental stimuli are perceived and transduced inside the cell through the activation of signaling pathways. One common type of cell signaling transduction network is initiated by G-proteins. G-proteins are activated by G-protein-coupled receptors (GPCRs) and transmit signals from hormones, neurotransmitters, and other signaling factors, thus controlling a number of biological processes that include synaptic transmission, visual photoreception, hormone and growth factors release, regulation of cell contraction and migration, as well as cell growth and differentiation. G-proteins mainly act as heterotrimeric complexes, composed of alpha, beta, and gamma subunits. In the last few years, whole exome sequencing and biochemical studies have shown causality of disease-causing variants in genes encoding G-proteins and human genetic diseases. This review focuses on the G-protein β subunits and their emerging role in the etiology of genetically inherited rare diseases in humans. View Full-Text
Keywords: heterotrimeric G-proteins; β subunits; neurodevelopmental disorders; human genetic diseases heterotrimeric G-proteins; β subunits; neurodevelopmental disorders; human genetic diseases
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Malerba, N.; De Nittis, P.; Merla, G. The Emerging Role of Gβ Subunits in Human Genetic Diseases. Cells 2019, 8, 1567.

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